• Born: May 8, 2021 | Variant: c.644C>A:p. (Ala215Glu)

Hi, I'm Francisco from São Paulo.

I'm curious and I eat a lot! I love to hear my mommy and sister talking and playing with me. My dad is my best friend.

We have 2 kids, Julia Cauzo, she's 2 1/2 years old and and Francisco is 1. Julia was planned and I did artificial insemination. Francisco was not planned at all and I got pregnant 9 months after Julia's birth. Francisco's pregnancy was perfect, but from the moment he was born he started with low saturation, and the nurse took him to the ICU where he remained for 6 months with seizures, had 2 cardiac arrests, did dialysis and had thrombosis. Nowadays Francisco is doing well. He has DEE and sometimes infantile spasms. He takes 6 sodium channels blockers and is on a ketogenic diet. He's a very strong and lovely boy, a true warrior with a blessed soul. His family is passionate and very proud of Francisco. He teaches us every single day.


Our goal is to find a cure!

Did you or your child just receive a new diagnosis of SCN2A? If so, please know you are not alone!